Ailesel Meme ve Over Kanserlerine Yaklaşım
Özet
Kalıtsal meme ve over kanserleri, çoğunlukla sporadik gelişse de, BRCA1 ve BRCA2 genlerindeki patojenik varyantlar nedeniyle güçlü bir genetik yatkınlık gösterebilmektedir. Bu genetik risklerin belirlenmesi amacıyla erken tanı alanlar veya güçlü aile öyküsü bulunan bireyler için yeni nesil multigen panel testleri önerilmektedir. Test sonuçlarının pozitif çıkması patojenik bir varyantın varlığına işaret ederken, negatif veya belirsiz (VUS) sonuçlar risk yönetimini karmaşıklaştırabilmektedir. Bu tür durumlarda BRCAPRO ve Tyrer-Cuzick gibi matematiksel modeller kullanılarak hastaya özel risk analizleri yapılmakta ve yüksek riskli kadınlar için mamografi, MR taramaları, kemoprevensiyon veya mastektomi gibi proaktif önlemler değerlendirilmektedir. Over kanseri yönetiminde ise tarama yöntemlerinin etkinliği sınırlı olduğundan, aile öyküsü ve risk düzeyine göre oral kontraseptif kullanımı veya risk azaltıcı bilateral salpingo-ooforektomi (rrBSO) gibi cerrahi seçenekler ön plana çıkmaktadır.
Hereditary breast and ovarian cancers, although mostly sporadic, can exhibit a strong genetic predisposition due to pathogenic variants in the BRCA1 and BRCA2 genes. In order to determine these genetic risks, next-generation multigene panel testing is recommended for individuals diagnosed at an early age or those with a strong family history. While a positive test result indicates the presence of a pathogenic variant, negative or uninformative (VUS) results can complicate risk management. In such cases, patient-specific risk analyses are performed using mathematical models like BRCAPRO and Tyrer-Cuzick, and proactive measures such as mammography, MRI screenings, chemoprevention, or mastectomy are evaluated for high-risk women. In ovarian cancer management, since the efficacy of screening methods is limited, oral contraceptive use or surgical options like risk-reducing bilateral salpingo-oophorectomy (rrBSO) come to the fore based on family history and risk levels.
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